Abstract library

119 results for "SDHB mutation".
#99 Gene mutations and Hypoxia Inducible Factor (HIF-1) expression as prognostic-predictive factors in pheochromocytomas/paragangliomas (P/P)
Introduction: P/P are rare tumors sporadically associated with familial disorders. In advanced/unresectable disease, no standard treatment has so far been well established. Recently a mutation of some genes (SDHB, SDHC, SDHD) involved in the pathogenesis of familial P/P was discovered. These mutations are often associated with an over-expression of HIF-1, which plays a central role in angiogenesis and cell proliferation. This pathway is known to be inhibited by some targeted therapies, such as sunitinib or sorafenib.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: Emilio Bajetta
#1160 Exclusive Hotspot Mutation of YY1 Gene in Insulinomas and Extensive Mutation of DAXX in PNETs
Introduction: Somatic mutation of YY1 was shown in sporadic insulinoma, the main type of functional PNET. DAXX mutation occurred mainly in NF-PNET. However, YY1 and DAXX mutations in non-insulinomas and insulinomas, respectively, have not been well elucidated.
Conference: 12th Annual ENETS Conference (2015)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Dr Yuan-Jia Chen
Authors: Song Y L, Qiao X W, Bai C M, Lu C M, ...
Keywords: YY1, daxx, mutation, PNET
#271 A Novel Missense Mutation of the TMEM127 Gene that Leads to Pheochromocytoma Phenotype
Introduction: Recently, truncating germline mutations in TMEM127 gene have been identified in 30% of familial cases of adrenal pheochromocytoma (PHEO) and in 3% of apparently sporadic cases.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: Rita Domingues
#1329 The MEN2B Due to de Novo Mutation M918T at Algiers
Introduction: The MEN2B, or Gorlin syndrome is a very rare disorder where there are a medullary cancer of thyroide associated with pheochromocytoma and other clinical signs such as a ganglion – neuromatose or a Marfan syndrome. The MEN2B belongs MEN2 are rare hereditary disease, transmitted as an autosomal dominant mutations linked to the RET proto-oncogene.
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Professor Chikouche Ammar
Authors: Chikouche A, ...
#2283 Ultra-Deep Targeted Resequencing Reveals Recurrent DAXX and CYFIP2 Mutations and Implicates Novel Pathways in Pancreatic Neuroendocrine Tumors
Introduction: Recent studies in pancreatic neuroendocrine tumors have identified mutations in DAXX/ATRX, MEN1, and genes involved in the phosphoinositide-3-kinase/Akt/mammalian target of rapamycin (PI3K-Akt-mTOR) pathway. However, these studies focused on abundant mutations.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Timon Vandamme
#636 Illness Perceptions, Risk Perception and Worry in Patients with Inherited Paragangliomas
Introduction: Carriers of germline mutations in subunits B and D of the succinate dehydrogenase (SDH) gene are at risk for developing paragangliomas (PGLs). The way a person perceives this risk and worries about it may be influenced by his or her perceptions about PGLs.
Conference: 10th Annual ENETS Conference (2013)
Category: Pathology, grading, staging
Presenting Author: MD Leonie Van Hulsteijn
#1380 Assessment of the Growth Rate of Paragangliomas Related to SDHx Gene Mutations Using Computed Tomography.
Introduction: SDHx mutations are associated with a lifelong risk of multifocal paragangliomas (PGL), so patients need regular follow-up examinations.
Conference: 13th Annual ENETS conference (2016)
Category: Epidemiology/Natural history/Prognosis - Prognosis
Presenting Author: Ilona Michałowska
#1722 New MEN-1 Gene Mutation Implicated in Familiar MEN-1 Syndrome Onset
Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic syndrome associated with an increased risk of developing parathyroid, pituitary and pancreatic neuroendocrine tumors. MEN1 has an autosomal dominant pattern of hereditability and it is usually related to mutations in menin coding gene
Conference: 14th Annual ENETS conference (2017)
Category: Clinical cases/reports
Presenting Author: MD Elisabetta Grego
#2234 High Rate of Copy-Number Alterations in Gastrointestinal and Pancreatic Neuroendocrine Tumors with Unidentified Driver Mutations
Introduction: The driving genetic alteration leading to neuroendocrine tumor (NET) development has been reported for primary tumors of pancreatic origin, but not for metastases. Moreover, even for primary tumor a significant “dark matter” remains to be explored.
Conference: 15th Annual ENETS conference (2018)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Amit Tirosh
#273 The Succinate Dehydrogenase Genetic Testing in Patients with Extra-adrenal Paragangliomas: The Portuguese Cancer Center (Lisboa) Experience
Introduction: Extra-adrenal paragangliomas (PGLs) occur as sporadic or familial entities, the latter mostly in association with germline mutations of the SDHB, SDHC or SDHD genes.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: Rita Domingues
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